fumarylacetoacetase (beta-diketonase, fumarylacetoacetate hydrolase, FAH, FAA)

Function

• catalyzes hydrolysis of 4-fumarylacetoacetate forming acetoacetate & fumarate
• final step in catabolism of tyrosine

4-fumarylacetoacetate + H2O <--> acetoacetate + fumarate

Cofactor: Ca+2, Mg+2

Structure

• homodimer
• belongs to the FAH family

Expression

• expressed ainly in liver & kidney
• lower levels are also detected in many other tissues

Pathology

defect leads to tyrosinemia type 1

More general terms

• fumarylacetoacetate hydrolase family

Additional terms

• tyrosinemia type 1

Database

• UniProt: http://www.uniprot.org/uniprot/P16930.html
• OMIM: https://mirror.omim.org/entry/276700